Reference SNP(refSNP) Cluster Report: rs336986

Reference SNP(refSNP) Cluster Report: rs336986

refSNP ID: rs336986
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	79/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	T
Clinical Association:	unknown

HGVS Names
NM_000218.2:c.1794+16832A>G
NM_181798.1:c.1413+16832A>G
NT_009237.17:g.1603340A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss88432422 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs336986 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss429690	KWOK\|OVLP-000621-323984	fwd/B	C/T	ggcatcttgctttcaagagacaaggtaatc	gtggacctcccgtctttccctccgctaggg	06/30/00	10/10/03	79	Genomic	99 %
ss623217	SC_JCM\|AC003675.1_41851	rev/T	A/G	ccctagcggagggaaagacgggaggtccac	gattaccttgtctcttgaaagcaagatgcc	07/12/00	10/10/03	80	Genomic	unknown
ss902956	KWOK\|OVLP-000804-162890	fwd/B	C/T	ggcatcttgctttcaagagacaaggtaatc	gtggacctcccgtctttccctccgctaggg	09/01/00	10/10/03	86	Genomic	99 %
ss1621390	KWOK\|OVLP-000925-562671	fwd/B	C/T	ggcatcttgctttcaagagacaaggtaatc	gtggacctcccgtctttccctccgctaggg	10/04/00	10/10/03	87	Genomic	99 %
ss88432422	BCMHGSC_JDW\|JWB-0364528	rev/T	A/G	ccctagcggagggaaagacgggaggtccac	gattaccttgtctcttgaaagcaagatgcc	02/26/08	02/27/08	129	Genomic	unknown

Fasta sequence (Legend)

 CTGTGGGGTG GAGCTGAGTG GGACGTGGGA GGAGGTGGCG AGTTAGATGG GAAGACCCCT
 TGGACCCCCG CCAACCACAG GCAGAGGACC CTCTGAGTCA TCAAACTCAG GTCTTGACTG
 TGCTGCCTGC TTGCCTTCCT CCCCGCACAG CTTCTGGGGG TGTGATGAGC TATACCCACT
 CTAGGCTGGG CCTGGTCTCT GTACATTGGT CCCCACTGGT GGCATCTTGC TTTCAAGAGA
 CAAGGTAATC
 Y
 GTGGACCTCC CGTCTTTCCC TCCGCTAGGG AGAGCAAACT TGGGAAGAAC AGGTATGTGG
 TTCTGGGTGG TGGCTTCAGA GCTGAAGCTG AAAGTGGGAG ATGGGGGCCA GAGGGGTCCT
 CCAGGCTCAG GCTCTCTTGC TGGGTCCAGT CCAGCCCAGC AGAACTTGTG CCTCCTCCAG
 GACACCCTCA CCTGGGAAGG CGGTGTACTC CCTGACGCCC CTCCATGCGG CATCTGCTCC
 CCGCTAATCT

GeneView

GeneView via analysis of contig annotation: KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_009237->NM_000218

function

reference

NT_009237->NM_181798

function

HuRef

NW_001838018->NM_181798

function

Celera

NW_924962->NM_000218

function

Celera

NW_924962->NM_181798

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_009237->NM_000218->NP_000209	1603340	forward	intron

reference	NT_009237->NM_181798->NP_861463	1603340	forward	intron

HuRef	NW_001838018->NM_181798->NP_861463	1406090	reverse	intron

Celera	NW_924962->NM_000218->NP_000209	2430622	forward	intron

Celera	NW_924962->NM_181798->NP_861463	2430622	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs336986 maps exactly once on NCBI human chromosome 11

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
11	NW_001838018.2	1406090	2604594	plus	T	alt_assembly_8	HuRef	HuRef	view	250
11	NT_009237.17	1603340	2772675	minus	A	ref_assembly	reference	reference	view	250
11	NW_924962.1	2430622	2850866	minus	A	alt_assembly_1	Celera	Celera	view	250

NCBI Resource Links

Submitter-Referenced
GenBank
AC013791.3 AC013791 AC021424 AC021424.3

dbSNP Blast Analysis
GenBank HTGS Finished:
AC003675.1 AC013791.9 AC021424.6 NC_000011.8

Population Diversity

There is no frequency data.

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	UNKNOWN

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .